High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis

Human Mutation

Volumn 31, Issue 4, 2010, Pages

  Vossen, Rolf H A M ^a   Van Duijn, Martine ^a   Daha, Mohamed R ^a   Den Dunnen, Johan T ^a   Roos, Anja ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Complement; High Resolution Melting Analysis; HRMA; Mannose binding lectin; MBL2; Single nucleotide polymorphism

Indexed keywords

MANNOSE BINDING LECTIN 2;

ARTICLE; DNA DETERMINATION; GENOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

GENOTYPE; HUMANS; MANNOSE-BINDING LECTIN; MUTANT PROTEINS; NUCLEIC ACID DENATURATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 77950425996     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21213     Document Type: Article

References (27)

1. Arraes, LC, de Souza, PR, Bruneska, D, Castelo, FA, Cavada, BS, Lima Filho, JL, Crovella, S. 2006. A cost-effective melting temperature assay for the detection of single-nucleotide polymorphism in the MBL2 gene of HIV-1-infected children. Braz J Med Biol Res 39:719-723.
2. Berger, SP, Roos, A, Mallat, MJ, Fujita, T, de Fijter, JW, Daha, MR. 2005. Association between mannose-binding lectin levels and graft survival in kidney transplantation. Am J Transplant 5:1361-1366.
3. Berger, SP, Roos, A, Mallat, MJ, Schaapherder, AFM, Doxiadis, II, Van Kooten, C, Daha, MR, de Fijter, JW. 2007. Low pre-transplantation MBL levels predict superior patient and graft survival after simultaneous pancreas-kidney transplantation. J Am Soc Nephrol 18:2416-2422.
4. Catsburg, A, van der Zwet, WC, Morre, SA, Ouburg, S, Vandenbroucke- Grauls, CM, Savelkoul, PH. 2007. Analysis of multiple single nucleotide polymorphisms (SNP) on DNA traces from plasma and dried blood samples. J Immunol Methods 321:135-141.
5. Dames, S, Margraf, RL, Pattison, DC, Wittwer, CT, Voelkerding, KV. 2007. Characterization of aberrant melting peaks in unlabeled probe assays. J Mol Diagn 9:290-296.
6. Dommett, RM, Klein, N, Turner, MW. 2006. Mannose-binding lectin in innate immunity: past, present and future. Tissue Antigens 68:193-209.
7. Erali, M, Voelkerding, KV, Wittwer, CT. 2008. High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol 85:50-58.
8. Garred, P. 2008. Mannose-binding lectin genetics: from A to Z. Biochem Soc Trans 36:1461-1466.
9. Hansen, TK, Tarnow, L, Thiel, S, Steffensen, R, Stehouwer, CD, Schalkwijk, CG, Parving, HH, Flyvbjerg, A. 2004. Association between mannose-binding lectin and vascular complications in type 1 diabetes. Diabetes 53:1570-1576.
10. Hladnik, U, Braida, L, Boniotto, M, Pirulli, D, Gerin, F, Amoroso, A, Crovella, S. 2002. Single-tube genotyping of MBL-2 polymorphisms using melting temperature analysis. Clin Exp Med 2:105-108.
11. Huang, RS, Chen, P, Wisel, S, Duan, S, Zhang, W, Cook, EH, Das, S, Cox, NJ, Dolan, ME. 2009. Population-specific GSTM1 copy number variation. Hum Mol Genet 18:366-372.
12. Kwok, PY. 2001. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet 2:235-258.
13. Madsen, HO, Satz, ML, Hogh, B, Svejgaard, A, Garred, P. 1998. Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America. J Immunol 161:3169-3175.
14. Pati, N, Schowinsky, V, Kokanovic, O, Magnuson, V, Ghosh, S. 2004. A comparison between SNaPshot, pyrosequencing, and biplex invader SNP genotyping methods: accuracy, cost, and throughput. J Biochem Biophys Methods 60:1-12.
15. Petersen, SV, Thiel, S, Jensen, L, Steffensen, R, Jensenius, JC. 2001. An assay for the mannan-binding lectin pathway of complement activation. J Immunol Methods 257:107-116.
16. Reed, GH, Kent, JO, Wittwer, CT. 2007. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8:597-608.
17. Roos, A, Bouwman, LH, Munoz, J, Zuiverloon, T, Faber-Krol, MC, Fallaux-van den Houten FC, Klar-Mohamad, N, Hack, CE, Tilanus, MG, Daha, MR. 2003. Functional characterization of the lectin pathway of complement in human serum. Mol Immunol 39:655-668.
18. Roos, A, Daha, MR, Van Pelt, J, Berger, SP. 2007. Mannose-binding lectin and the kidney. Nephrol Dial Transplant 22:3370-3377.
19. Roos, A, Dieltjes, P, Vossen, RH, Daha, MR, De Knijff, P. 2006. Detection of three single nucleotide polymorphisms in the gene encoding mannose-binding lectin in a single pyrosequencing reaction. J Immunol Methods 309:108-114.
20. Roos, A, Garred, P, Wildenberg, ME, Lynch, NJ, Munoz, J, Zuiverloon, T, Bouwman, LH, Schlagwein, N, Fallaux-van den Houten, FC, Faber-Krol, MC, Madsen, HO, Schwaeble, WJ, Matsushita, M, Fujita, T, Daha, MR. 2004. Antibody-mediated activation of the classical pathway of complement may compensate for mannose-binding lectin deficiency. Eur J Immunol 34:2589-2598.
21. Seipp, MT, Durtschi, JD, Liew, MA, Williams, J, Damjanovich, K, Pont-Kingdon, G, Lyon, E, Voelkerding, KV, Wittwer, CT. 2007. Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting. J Mol Diagn 9:284-289.
22. Steffensen, R, Hoffmann, K, Varming, K. 2003. Rapid genotyping of MBL2 gene mutations using real-time PCR with fluorescent hybridisation probes. J Immunol Methods 278:191-199.
23. Tsuchihashi, Z, Dracopoli, NC. 2002. Progress in high throughput SNP genotyping methods. Pharmacogenomics J 2:103-110.
24. Vossen, RHAM, Aten, E, Den Dunnen, J, Roos, A. 2009. High-Resolution Melting Analysis (HRMA) - more than just sequence variant screening. Hum Mutat 30:860-868.
25. Wallis, R. 2002. Dominant effects of mutations in the collagenous domain of mannose-binding protein. J Immunol 168:4553-4558.
26. Wittwer, CT, Reed, GH, Gundry, CN, Vandersteen, JG, Pryor, RJ. 2003. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 49:853-860.
27. Zhou, L, Myers, AN, Vandersteen, JG, Wang, L, Wittwer, CT. 2004. Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye. Clin Chem 50:1328-1335.